Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.

ABSTRACT:

Background and purpose

Late onset Pompe disease (LOPD) is a rare neuromuscular disorder caused by a deficit in acid alpha-glucosidase. Macroglossia and swallowing disorders have already been reported, but no study has focused yet on its frequency and functional impact on patients' daily life.

Methods

We reviewed 100 adult LOPD patients followed in 17 hospitals in France included in the French national Pompe disease registry. The Swallowing Quality of Life Questionnaire and the Sydney Swallow Questionnaire were completed by patients, and a specialist carried out a medical examination focused on swallowing and assigned a Salassa score to each patient. Respiratory and motor functions were also recorded. Subgroup analysis compared patients with and without swallowing difficultie

SUBMITTER: Retailleau E 

PROVIDER: S-EPMC11414798 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature